Is F11 p.Phe205fs (c.614del) pathogenic?

F11 p.Phe205fs (c.614del) is classified Likely pathogenic in F11 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-01-02). Absent from gnomAD; Associated with congenital factor XI deficiency.

What condition is associated with F11 p.Phe205fs (c.614del)?

F11 p.Phe205fs (c.614del) is associated with congenital factor XI deficiency (ClinVar).

How common is F11 p.Phe205fs (c.614del) in the general population?

F11 p.Phe205fs (c.614del) is absent from gnomAD (gnomAD).

How is Congenital factor XI deficiency inherited?

Typically Autosomal dominant, Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

F11 p.Phe205fs

c.614del · rs2477277265 · VCV1726377

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

congenital factor XI deficiency

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function; NMD-escape possible for C-terminal truncations
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.6	GERP -4.7

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: F11
Protein: p.Phe205fs
Coding: c.614del
MANE Select: NM_001322131 · reported on NM_000128
dbSNP: rs2477277265
Type: Deletion
Location: chr4:186276246 (GRCh38)
Structure: AlphaFold pLDDT 68.98

Full F11 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

congenital factor XI deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Congenital factor XI deficiency (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive
Onset: All ages
Prevalence: 1-9 / 1 000 000 (Europe)

Similar variants

F11 c.1136-7_1136-4del Pathogenic ★★ same condition
F11 p.Gly303fs Pathogenic ★★ same condition
F11 p.Ile215_Asp216del Pathogenic/Likely pathogenic ★★ same condition
F11 p.Ile359fs Pathogenic ★★ same condition
F11 p.Leu442fs Pathogenic ★★ same condition
F11 p.Tyr115fs Likely pathogenic ★★ same condition
F11 c.596-7_600del Likely pathogenic ★ same condition
F11 p.Ala223fs Likely pathogenic ★ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/f11-p-phe205fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown